ENST00000368291.6 ECHDC1

Information
Transcript ID
ENST00000368291.6
Genome
hg38
Position
chr6:127,289,634-127,343,599
Strand
-
CDS length
438
Amino acid length
146
Gene symbol
ECHDC1
Gene type
protein-coding
Gene description
ethylmalonyl-CoA decarboxylase 1
Gene Entrez Gene ID
55862
Variants

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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency
TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence
Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
5 127,289,634 127,290,277
4 127,314,816 127,314,896
3 127,327,002 127,327,144
2 127,330,809 127,331,030
1 127,343,336 127,343,599
CDS
Exon number Type Start Stop
4 CDS 127,314,822 127,314,896
3 CDS 127,327,002 127,327,144
2 CDS 127,330,809 127,331,028
Other genome
Genome Chromosome Start End Links
hg19 chr6 127,610,779 127,664,744 Link
CDS sequence
ATGGCGAAAAGTCTTTTGAAGACAGCCTCTCTGTCTGGAAGGACAAAATTGCTACATCAAACAGGATTGTCACTTTATAGTACATCCCATGGATTTTATGAGGAAGAAGTGAAAAAAACACTTCAGCAGTTTCCTGGTGGATCCATTGACCTTCAGAAGGAAGACAATGGCATTGGCATTCTTACTCTGAACAATCCAAGTAGAATGAATGCCTTTTCAGGTGTTATGATGCTACAACTTCTGGAAAAAGTAATTGAATTGGAAAATTGGACAGAGGGGAAAGGCCTCATTGTCCGTGGGGCAAAAAATACTTTCTCTTCAGGATCTGATCTGAATGCTGTGAAATCACTAGGAACTCCAGAGACTTCCTTTAATAAGTGTTGCGCTGGTTCAAGGTTGGGCATTGGGTGGAGGAGCAGAATTTACTACAGCATGTGA
Amino sequence
MAKSLLKTASLSGRTKLLHQTGLSLYSTSHGFYEEEVKKTLQQFPGGSIDLQKEDNGIGILTLNNPSRMNAFSGVMMLQLLEKVIELENWTEGKGLIVRGAKNTFSSGSDLNAVKSLGTPETSFNKCCAGSRLGIGWRSRIYYSM*